rs6731289

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0439 (13150/29902,GnomAD)
C==0474 (13821/29116,TOPMED)
A=0453 (2267/5008,1000G)
A=0248 (957/3854,ALSPAC)
A=0262 (971/3708,TWINSUK)
chr2:82665670 (GRCh38.p7) (2p12)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.82665670C>A
GRCh37.p13 chr 2NC_000002.11:g.82892794C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.054A=0.946
1000GenomesAmericanSub694C=0.680A=0.320
1000GenomesEast AsianSub1008C=0.693A=0.307
1000GenomesEuropeSub1006C=0.751A=0.249
1000GenomesGlobalStudy-wide5008C=0.547A=0.453
1000GenomesSouth AsianSub978C=0.760A=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.752A=0.248
The Genome Aggregation DatabaseAfricanSub8706C=0.150A=0.850
The Genome Aggregation DatabaseAmericanSub838C=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1608C=0.701A=0.299
The Genome Aggregation DatabaseEuropeSub18448C=0.733A=0.266
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.560A=0.439
The Genome Aggregation DatabaseOtherSub302C=0.690A=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.474A=0.525
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.738A=0.262
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
18985386Genomewide association study for susceptibility genes contributing to familial Parkinson disease.Pankratz NHum Genet

P-Value

SNP ID p-value Traits Study
rs67312897.4E-05alcoholism (heaviness of drinking)21529783

eQTL of rs6731289 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs6731289 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.